Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.110 GeneticVariation group BEFREE In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. 18971206 2009
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.110 CausalMutation group CLINVAR
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.110 Biomarker group HPO